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Journal of Medical Genetics|November 12, 2010
2q31.1 microdeletion syndrome: redefining the associated clinical phenotypeBoyan Dimitrov, Irina Balikova, Thomy de Ravel, et al.
American Journal of Medical Genetics. Part A|April 14, 2009
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qterMaria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, et al.
BMJ Case Reports|July 2, 2011
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Journal of Medical Genetics|June 26, 2007
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Journal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
European Journal of Human Genetics : EJHG|April 7, 2023
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited allelesIlse Parijs, Nathalie Brison, Leen Vancoillie, et al.
Brain : a Journal of Neurology|February 9, 2022
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphologySiddharth Banka, Abigail Bennington, Martin J Baker, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohortsMartina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
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